| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44257514C>T | CA127399 | SLC4A1 | c.1462G>A (p.Val488Met) c.777+1748G>A (n.777+1748G>A) n.1601G>A c.1267G>A (p.Val423Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44257514C= | CA2261309568 | SLC4A1 | c.1462G= (p.Val488=) c.777+1748G= (n.777+1748G=) n.1601G= c.1267G= (p.Val423=) | dbSNP |